When Amy Tull Atwood was diagnosed with breast cancer 2 years ago, physicians at the Dana-Farber Cancer Institute in Boston, Massachusetts, asked whether she was willing to donate tissue and blood samples for research.

“I said yes to everything,” says Atwood, who works for Genzyme, a biotech company in Cambridge, Massachusetts. “Working at Genzyme, I know the importance of research and that we never will find better medical treatments unless people are willing to donate their blood and tissues.”

Diagnosed with invasive ductal carcinoma, Atwood opted for a double mastectomy and, after learning the cancer had spread to her lymph nodes, she also underwent chemotherapy and radiation. Recently, she had breast implant surgery. She was told that extra blood or tissue could be taken during any of her visits or surgeries. “They make it so seamless,” says Atwood. “It doesn't really impact the patient; it's not inconvenient at all.”

Biobanking specialists estimate that, when asked, approximately 95% of patients consent to providing their specimens for research as well as to having their medical records reviewed. They also will answer periodic follow-up questions about their health. “In addition to helping themselves, patients like to think they'll help others, including possibly their own children,” says Stanley Hamilton, MD, division head of pathology/laboratory medicine at The University of Texas MD Anderson Cancer Center in Houston.

Although there are now many biobanks (also known as biorepositories) at medical research centers across the country, the National Cancer Institute says that there is still an inadequate supply of biospecimens that have been harvested and stored according to standard protocols. Unlike major research centers, the majority of hospitals do not have the staff, time, or facilities to collect and store fresh tissue samples.

Biospecimens “Critical” in Medical Research

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  2. Biospecimens “Critical” in Medical Research
  3. Challenges

Biospecimens, which contain extensive cellular, molecular, and chemical information, include tissue, blood, urine, and saliva. They are collected with “annotations” that provide personal and medical information about the patient. This information is gathered from interviews, medical records, and in some cases, clinical trials in which the patients are participating.

In this molecular era of personalized medicine, biospecimen banking has become “absolutely essential” in the effort to better study tumor heterogeneity, Dr. Hamilton says. Access to biospecimens has helped scientists discover important findings, such as the HER2 breast cancer gene, which led to a diagnostic test and targeted treatment for the disease.

According to Andrea Richardson, MD, PhD, a surgical pathologist who oversees the Tissue Resource for Research tissue collection and storage program at Dana-Farber, biobanking supports research in 3 main ways:

  • It enables genomic analysis of the cancer;
  • It helps to establish clinical validation of basic science findings; and
  • It uses samples in clinical trials to determine which patients are responding to therapy.

“Biospecimens have been critical in helping us to unlock some of the science of obesity, inflammation, and cancer,” says Clifford Hudis, MD, chief of the breast cancer medicine service at Memorial Sloan Kettering Cancer Center in New York City.

With access to blood biospecimens and white adipose tissue from the breast, Dr. Hudis and his team study patients who are overweight or who have other disease processes. These patients appear to have low-level, subparticle inflammation in the breast that will have a bearing on breast cancer.

Having sufficient numbers of biospecimens ultimately will help scientists to discover new proteins and biomarkers that may someday lead to new screening and diagnostic tests, develop more effective and less toxic treatments, and identify better ways to deliver and measure responses to treatment.

“We're trying to understand how each patient's tumor works, and without biobanking, we won't make headway,” Dr. Hamilton says. “Tumors have mechanisms to bypass therapeutic agents, and we need to rebiopsy tissue and compare what's happening to the specimen along the course of time to know why resistance was either present or acquired as a result of the therapy.”

The next phase of this type of research likely will involve searching for blood-based biomarkers. To do so, investigators will need to develop a better understanding of circulating tumor cells, circulating nucleic acids, and possibly proteomics, Dr. Hamilton adds. “Whether liquid biopsies are truly able to help patients can only be determined on the research side by having tissue from the tumor to compare to what's in the blood,” he says.

Dr. Hamilton notes that The MD Anderson Cancer Center has launched an ambitious effort to obtain biospecimens from every patient who has consented to donate at the hospital, which is no small feat given that the institution sees approximately 35,000 patients every year. At the same time, the National Cancer Institute is leading an effort to develop a national repository of biospecimens.


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  2. Biospecimens “Critical” in Medical Research
  3. Challenges

The work of collecting, storing, and managing biospecimens is extremely time-intensive and cannot be automated, says Dr. Hamilton. “Someone has to talk to every patient and their family and get their informed consent,” he says. “Then, someone must collect the residual material and extra blood. It has to be separated into components that will be important, go into a database and then be frozen and stored.”

Dr. Hudis adds that funding for biobanking is not always easy to obtain because, as opposed to hypothesis-driven research, biobanks can be maintained for many years without a deliverable. “You can't always convince people that it will be useful in the future,” he says. “You just have to have a hunch that it will be.”

He adds that a growing number of prospective clinical trials are beginning to incorporate tissue acquisition into their proposals in an effort to build highly focused tissue banks that will provide information such as response to a particular treatment.

Because public research dollars are limited, Dr. Richardson says the Dana-Farber Tissue Resource for Research program is funded primarily through philanthropic donations. Privacy of information is another concern for biobanking. Dr. Richardson notes that the program's databases have firewalls, and all data and biospecimens are stored under random codes.

Still, such protections may not be enough, says Dr. Hamilton. “The fact is that in this genetic era we can't assume absolute anonymity,” he says. He points out that not only have people been able to track down their sperm donor fathers, but researchers have been able to identify specific patients in a research protocol simply by looking at databases and demographics posted on the Internet. That exercise was highlighted in a January 2014 issue of Science in which a genetics researcher identified 5 people as well as their entire families through the 1000 Genomes Project, an international study that collects genetic information and posts it for researchers online.[1]

“We're subjected to this in all areas of life, and I don't know if in medicine we are that much worse that the rest of society,” Dr. Hamilton says. “But health is a hot-button topic, and individual patients have to decide for themselves if they're willing to provide their material and clinical history.”

Meanwhile, researchers are eager to continue gathering additional types of biospecimens in their quest for answers. Dr. Richardson, for example, is working toward more collection of samples from women with metastatic breast cancer. “Most samples have been from women initially diagnosed with the disease,” she says. “Little had been done in understanding the molecular changes in women with metastatic disease, and that is what most breast cancer patients die from.”

That effort presents its own challenges because the disease has spread to vital organs, from which tissue is more difficult to obtain in large amounts. Still, technology has advanced enough to enable more analysis with smaller amounts of DNA and RNA than could be achieved several years ago, she adds.

Biospecimens have been critical in helping us to unlock some of the science of obesity, inflammation, and cancer. — Clifford Hudis, MD


  1. Top of page
  2. Biospecimens “Critical” in Medical Research
  3. Challenges